DOOR or DOORS syndrome is one of the phenotypes for a mutation inTBC1D24.

Chromosome location: 16p13.3

Gene: TBC1D24 (TBC1 domain family member 24)


D: deafness (sensorineural)

O: onychodystrophy (small or absent nails)

O: osteodystrophy (hypoplastic terminal phalanges; triphalangeal thumb)

R: mental retardation (intellectual and developmental delay)

S: seizures


There is a deficiency of the E1 component of the 2-oxoglutarate decarboxylase complex, resulting in increased 2-oxoglutarate in the urine.


Additional findings may include:

(1) microcephaly

(2) cranial anomalies

(3) dental anomalies

(4) congenital heart disease

(5) hypothyroidism

(6) urinary tract anomalies

(7) visual impairment

(8) peripheral neuropathy

(9) skeletal anomalies

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